ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)

dbSNP: rs875989891
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211576 SCV000294553 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000211576 SCV000540720 pathogenic Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000211576 SCV003827147 pathogenic Hypercholesterolemia, familial, 1 2022-02-15 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211576 SCV000268544 pathogenic Hypercholesterolemia, familial, 1 2012-02-09 no assertion criteria provided clinical testing

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